The goal of this observational study is undertake a detailed phenotypic and genotypic study of patients with ocular and secondary cancers due to mutations in the RB1 gene. Our research sequencing approach will allow advanced insight to for further detailed genotypic understanding of parent-of-origin for valuable insight into the genotype-phenotype relationship of this cancer syndrome.
Patients with molecularly proven retinoblastoma due to RB1 or a typical clinical retinoblastoma phenotype with genetic screening pending.
Able to give consent/parent or guardian able to give consent.
Patients unable or unwilling to undertake consent or clinical testing.
Patients unwilling to donate a saliva or blood sample in order to establish the genetic cause of their condition.
patients with presumed or genetically confirmed retinoblastoma
Cohort
Prospective
Targeted Long-read sequencing
GeneticAll patient's will undergo targeted long-read sequencing to resolve genomic and epigenomic signatures of the RB1 gene
Epigenomic and genomic profiling of the RB1 gene
Methylation signatures and genomic variant information to determine phase of the pathogenic variants in RB1 to specific differentially methylated signals in RB1
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University of Washington
Lead sponsor
National Eye Institute (NEI)
Collaborator
